A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012742



Internal ID9997689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41780108..41935011hg38UCSC Ensembl
Innerchr5:41780210..41935113hg19UCSC Ensembl
Innerchr5:41815967..41970870hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38154904
hg19154904
hg18154904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762518
Supporting Variants
SamplesRW_0334
Known GenesC5orf51, FBXO4, OXCT1, OXCT1-AS1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7012742
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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